| Variant ID | 29876 |
|---|---|
| Entrez Gene ID | 253959 |
| Gene | RALGAPA1 (GeneCards) |
| Location | hg19 14:36207803-36207803
hg38 14:35738597-35738597 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000014.8:g.36207803 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006462 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1477549 |
| Variant occurences in COSMIC | 1(breast) |
| EIGEN score | 1.3147 |
| CADD Raw score (version 1.3) | 0.809169 (Deleterious) |
| FATHMM raw prediction score | 0.94519 (Tolerated) |
| Deleterious probability by DeFine | 0.8351 (Deleterious) |
| Entrez Gene ID | 253959 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RALGAPA1 (GeneCards) |
| Number of variants in RALGAPA1 in this database | 1 (view all the variants) |
| Full name | Ral GTPase activating protein catalytic alpha subunit 1 |
| Band | 14q13.2 |
| Other IDs | Vega: OTTHUMG00000170619 OMIM: 608884 HGNC: HGNC:17770 Ensembl: ENSG00000174373 |
| Other names | p240, GRIPE, GARNL1, TULIP1, RalGAPalpha1 |
| Summary | This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016] |
| Individual ID | 28867142.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |